ClinVar for MedGen (Select 1805500) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245828	NC_000007.13:g.(?_107542163)_(107559704_?)del	DLD	Deletion	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 3245827	NC_000007.13:g.(?_107531696)_(107533743_?)del	DLD	Deletion	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 3241339	NM_000108.5(DLD):c.1047-2A>G	DLD	Single nucleotide variant (splice acceptor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 3241338	NM_000108.5(DLD):c.259C>T (p.Pro87Ser)	DLD (P87S)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 3239661	NM_000108.5(DLD):c.337+4_337+7del	DLD	Microsatellite (splice donor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 3023600	NM_000108.5(DLD):c.1353G>A (p.Leu451=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 3022857	NM_000108.5(DLD):c.1375-17G>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 3022407	NM_000108.5(DLD):c.119-16T>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 3021891	NM_000108.5(DLD):c.438+15T>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 3020518	NM_000108.5(DLD):c.1464+19T>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 3018904	NM_000108.5(DLD):c.875+11A>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 3014230	NM_000108.5(DLD):c.583-15_583-14del	DLD	Deletion (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 3006219	NM_000108.5(DLD):c.118+13G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 3005013	NM_000108.5(DLD):c.1465-12C>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2999845	NM_000108.5(DLD):c.1237-13C>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2999050	NM_000108.5(DLD):c.1245G>A (p.Glu415=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2996881	NM_000108.5(DLD):c.582+16_582+17insC	DLD	Insertion (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2996880	NM_000108.5(DLD):c.582+13C>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2994695	NM_000108.5(DLD):c.513T>A (p.Thr171=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2985148	NM_000108.5(DLD):c.1047-19C>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2984332	NM_000108.5(DLD):c.807G>A (p.Gly269=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2983751	NM_000108.5(DLD):c.999C>G (p.Pro333=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2976179	NM_000108.5(DLD):c.380del (p.Lys127fs)	DLD (K104fs +2 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 2974885	NM_000108.5(DLD):c.876-6A>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2974094	NM_000108.5(DLD):c.870T>C (p.Asp290=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2967605	NM_000108.5(DLD):c.876-19T>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2967472	NM_000108.5(DLD):c.685-19T>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2956762	NM_000108.5(DLD):c.1221G>A (p.Glu407=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2919139	NM_000108.5(DLD):c.1464+16A>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2917755	NM_000108.5(DLD):c.684+20C>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2915794	NM_000108.5(DLD):c.1046+16G>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2914891	NM_000108.5(DLD):c.105C>A (p.Tyr35Ter)	DLD (Y35*)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 2911551	NM_000108.5(DLD):c.337+17T>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2910776	NM_000108.5(DLD):c.118+18A>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2909832	NM_000108.5(DLD):c.875+14A>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2908582	NM_000108.5(DLD):c.875+20T>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2907940	NM_000108.5(DLD):c.338-18del	DLD	Deletion (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2907123	NM_000108.5(DLD):c.700A>C (p.Arg234=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2899030	NM_000108.5(DLD):c.175A>T (p.Lys59Ter)	DLD (K59*)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 2895937	NM_000108.5(DLD):c.438+15T>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2894101	NM_000108.5(DLD):c.40-17A>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2894039	NM_000108.5(DLD):c.876-5T>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2893703	NM_000108.5(DLD):c.438+16T>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2889139	NM_000108.5(DLD):c.1047-13A>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2886565	NM_000108.5(DLD):c.1046+16G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2875244	NM_000108.5(DLD):c.267+12T>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2873616	NM_000108.5(DLD):c.1323C>T (p.Ile441=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2871447	NM_000108.5(DLD):c.84T>C (p.Ser28=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2870794	NM_000108.5(DLD):c.615T>A (p.Gly205=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2868088	NM_000108.5(DLD):c.1074T>C (p.Ala358=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2866257	NM_000108.5(DLD):c.1236+16G>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2865401	NM_000108.5(DLD):c.3G>A (p.Met1Ile)	DLD (M1I)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 2863887	NM_000108.5(DLD):c.474C>T (p.Gly158=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2863220	NM_000108.5(DLD):c.582+7A>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2858427	NM_000108.5(DLD):c.1237-5C>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2856088	NM_000108.5(DLD):c.978G>A (p.Glu326=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2855345	NM_000108.5(DLD):c.685-14T>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2855004	NM_000108.5(DLD):c.1215A>G (p.Ser405=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2853421	NM_000108.5(DLD):c.1374+16C>T	DLD, LOC129999127	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2852492	NM_000108.5(DLD):c.685-20T>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2848280	NM_000108.5(DLD):c.340T>G (p.Ser114Ala)	DLD (S114A +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 2843750	NM_000108.5(DLD):c.438+7G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2842884	NM_000108.5(DLD):c.39+10G>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2842861	NM_000108.5(DLD):c.198+1G>T	DLD	Single nucleotide variant (splice donor variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2841269	NM_000108.5(DLD):c.663A>G (p.Ala221=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2837689	NM_000108.5(DLD):c.84T>A (p.Ser28=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2834457	NM_000108.5(DLD):c.267+8T>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2833509	NM_000108.5(DLD):c.1095A>G (p.Lys365=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2833507	NM_000108.5(DLD):c.582+11T>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2832785	NM_000108.5(DLD):c.231T>C (p.Gly77=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2832411	NM_000108.5(DLD):c.118+19C>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2827980	NM_000108.5(DLD):c.1035T>C (p.Thr345=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2823613	NM_000108.5(DLD):c.1465-16A>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2820532	NM_000108.5(DLD):c.453T>C (p.Asn151=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2815019	NM_000108.5(DLD):c.1374+17C>T	DLD, LOC129999127	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2804075	NM_000108.5(DLD):c.585A>T (p.Ile195=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2800118	NM_000108.5(DLD):c.118+19C>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2797587	NM_000108.5(DLD):c.720A>G (p.Thr240=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2797384	NM_000108.5(DLD):c.1517C>T (p.Ser506Leu)	DLD (S458L +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 2793886	NM_000108.5(DLD):c.156A>G (p.Gly52=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2793857	NM_000108.5(DLD):c.529A>T (p.Lys177Ter)	DLD (K177* +2 more)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 2783497	NM_000108.5(DLD):c.40-5del	DLD	Deletion (intron variant)	Pyruvate dehydrogenase E3 deficiency	GBenign
Select item 2782628	NM_000108.5(DLD):c.119-18A>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2781737	NM_000108.5(DLD):c.39+12G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2778853	NM_000108.5(DLD):c.582+18T>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2776025	NM_000108.5(DLD):c.1527T>C (p.Phe509=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2770226	NM_000108.5(DLD):c.118+11A>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2769441	NM_000108.5(DLD):c.684+11T>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2768874	NM_000108.5(DLD):c.875+13C>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2765092	NM_000108.5(DLD):c.337+16A>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2764022	NM_000108.5(DLD):c.438+12A>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2758730	NM_000108.5(DLD):c.582+19T>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2758339	NM_000108.5(DLD):c.1236+13A>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2756890	NM_000108.5(DLD):c.228T>C (p.Leu76=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2754864	NM_000108.5(DLD):c.338-1G>A	DLD	Single nucleotide variant (splice acceptor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2752254	NM_000108.5(DLD):c.854C>G (p.Ser285Ter)	DLD (S262* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 2749687	NM_000108.5(DLD):c.1158C>T (p.Tyr386=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2749057	NM_000108.5(DLD):c.40-18G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2747286	NM_000108.5(DLD):c.39+7G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2746427	NM_000108.5(DLD):c.924A>C (p.Val308=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign

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